Canonical Allele Identifier: CA382806481

Gene: KMT2A

Linked Data

• dbSNP Id: rs1950535869
• gnomAD v3: 11-118503565-C-T
• gnomAD v4: 11-118503565-C-T
• COSMIC: COSM4384609 ; COSM4384610
• MyVariant Identifiers: chr11:g.118374280C>T (hg19) ; chr11:g.118503565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503565C>T , CM000673.2:g.118503565C>T	GRCh38
NC_000011.9:g.118374280C>T , CM000673.1:g.118374280C>T	GRCh37
NC_000011.8:g.117879490C>T	NCBI36
NG_027813.1:g.72076C>T , LRG_613:g.72076C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7772C>T	ENSP00000432391.3:p.Pro2591Leu
ENST00000710560.1:c.7763C>T	ENSP00000518343.1:p.Pro2588Leu
ENST00000649878.2:c.1712C>T	ENSP00000497891.2:p.Pro571Leu
ENST00000685397.1:c.1712C>T	ENSP00000509586.1:p.Pro571Leu
ENST00000686370.1:c.1712C>T	ENSP00000509179.1:p.Pro571Leu
ENST00000689424.1:c.1970C>T	ENSP00000509852.1:p.Pro657Leu
ENST00000691053.1:c.7745C>T	ENSP00000509168.1:p.Pro2582Leu
ENST00000389506.10:c.7664C>T	ENSP00000374157.5:p.Pro2555Leu
ENST00000528278.2:n.7015C>T
ENST00000534358.8:c.7673C>T MANE Select	ENSP00000436786.2:p.Pro2558Leu
ENST00000649699.1:c.7550C>T	ENSP00000496927.1:p.Pro2517Leu
ENST00000389506.9:c.7664C>T	ENSP00000374157.5:p.Pro2555Leu
ENST00000534358.5:c.7673C>T	ENSP00000436786.1:p.Pro2558Leu
NM_001197104.1:c.7673C>T , LRG_613t1:c.7673C>T	NP_001184033.1:p.Pro2558Leu
NM_005933.3:c.7664C>T	NP_005924.2:p.Pro2555Leu
XM_006718839.2:c.5156C>T	XP_006718902.2:p.Pro1719Leu
XM_011542829.1:c.7772C>T	XP_011541131.1:p.Pro2591Leu
XM_011542830.1:c.7769C>T	XP_011541132.1:p.Pro2590Leu
XM_011542831.1:c.7763C>T	XP_011541133.1:p.Pro2588Leu
XM_011542832.1:c.5579C>T	XP_011541134.1:p.Pro1860Leu
XM_011542833.1:c.5255C>T	XP_011541135.1:p.Pro1752Leu
XM_006718839.3:c.5156C>T	XP_006718902.2:p.Pro1719Leu
XM_011542829.2:c.7772C>T	XP_011541131.1:p.Pro2591Leu
XM_011542830.2:c.7769C>T	XP_011541132.1:p.Pro2590Leu
XM_011542831.2:c.7763C>T	XP_011541133.1:p.Pro2588Leu
XM_011542833.2:c.5255C>T	XP_011541135.1:p.Pro1752Leu
NM_001197104.2:c.7673C>T MANE Select	NP_001184033.1:p.Pro2558Leu
NM_005933.4:c.7664C>T	NP_005924.2:p.Pro2555Leu